Varaico: Literature-Extracted Genetic Variants

Gene:GJB1
Variant:p.L239I
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GJB1

NM_000166.6:p.L239I

Associated Papers

Cross-Sectional Study in a Large Cohort of Chinese Patients With GJB1 Gene Mutations.

Liu X et al.

Frontiers in Neurology, 2020

What's the Function of Connexin 32 in the Peripheral Nervous System?

Bortolozzi M

Frontiers in Molecular Neuroscience, 2018

Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations.

Abrams CK et al.

Scientific Reports, 2017

GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems.

Abrams CK et al.

Cell and Tissue Research, 2015

Diverse trafficking abnormalities of connexin32 mutants causing CMTX.

Yum SW et al.

Neurobiology of Disease, 2002

Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.

Nicholson GA et al.

Neurology, 1998

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."